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    CGAS cyclic GMP-AMP synthase [ Homo sapiens (human) ]

    Gene ID: 115004, updated on 29-Oct-2024

    Summary

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    Official Symbol
    CGASprovided by HGNC
    Official Full Name
    cyclic GMP-AMP synthaseprovided by HGNC
    Primary source
    HGNC:HGNC:21367
    See related
    Ensembl:ENSG00000164430 MIM:613973; AllianceGenome:HGNC:21367
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    D4; MB21D1; h-cGAS; C6orf150
    Summary
    Enables several functions, including 2',3'-cyclic GMP-AMP synthase activity; molecular condensate scaffold activity; and phosphatidylinositol-4,5-bisphosphate binding activity. Involved in several processes, including defense response to symbiont; intracellular signal transduction; and regulation of defense response. Located in nuclear body; plasma membrane; and site of double-strand break. Is active in cytosol and nucleus. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in bone marrow (RPKM 4.9), lymph node (RPKM 3.8) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CGAS in Genome Data Viewer
    Location:
    6q13
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (73423711..73452297, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (74600410..74628713, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (74133434..74162020, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene oocyte expressed protein Neighboring gene small nucleolar RNA U13 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:74104168-74104668 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:74108069-74108726 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:74113715-74113899 Neighboring gene DEAD-box helicase 43 Neighboring gene Sharpr-MPRA regulatory region 12175 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17333 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24743 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17334 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:74171453-74172298 Neighboring gene RNA, U6 small nuclear 975, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24747 Neighboring gene mitochondrial tRNA translation optimization 1 Neighboring gene RNA, 7SL, cytoplasmic 827, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. MALDI-TOF Mass Spectrometry-Based High-Throughput Screening for Inhibitors of the Cytosolic DNA Sensor cGAS. Simon RP, et al. SLAS Discov, 2020 Apr. PMID 31583948
    2. Structural basis for the inhibition of cGAS by nucleosomes. Kujirai T, et al. Science, 2020 Oct 23. PMID 32912999, Free PMC Article
    3. Structural mechanism of cGAS inhibition by the nucleosome. Pathare GR, et al. Nature, 2020 Nov. PMID 32911482
    4. Human papillomaviruses sensitize cells to DNA damage induced apoptosis by targeting the innate immune sensor cGAS. Gusho E, et al. PLoS Pathog, 2022 Jul. PMID 35877778, Free PMC Article
    5. Disrupting HIV-1 capsid formation causes cGAS sensing of viral DNA. Sumner RP, et al. EMBO J, 2020 Oct 15. PMID 32852081, Free PMC Article

    See all (289) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Unravelling the interplay between ER stress, UPR and the cGAS-STING pathway: Implications for osteoarthritis pathogenesis and treatment strategy.
      Title: Unravelling the interplay between ER stress, UPR and the cGAS-STING pathway: Implications for osteoarthritis pathogenesis and treatment strategy.
    2. Inactivated cGAS-STING Signaling Facilitates Endocrine Resistance by Forming a Positive Feedback Loop with AKT Kinase in ER+HER2- Breast Cancer.
      Title: Inactivated cGAS-STING Signaling Facilitates Endocrine Resistance by Forming a Positive Feedback Loop with AKT Kinase in ER+HER2- Breast Cancer.
    3. Activation of the cGAS-STING-IRF3 Axis by Type I and II Interferons Contributes to Host Defense.
      Title: Activation of the cGAS-STING-IRF3 Axis by Type I and II Interferons Contributes to Host Defense.
    4. The relationship between tumor immunity and the cGAS-STING pathway in breast cancer: An immunohistochemical study.
      Title: The relationship between tumor immunity and the cGAS-STING pathway in breast cancer: An immunohistochemical study.
    5. 53BP1 loss elicits cGAS-STING-dependent antitumor immunity in ovarian and pancreatic cancer.
      Title: 53BP1 loss elicits cGAS-STING-dependent antitumor immunity in ovarian and pancreatic cancer.
    6. Targeting protein condensation in cGAS-STING signaling pathway.
      Title: Targeting protein condensation in cGAS-STING signaling pathway.
    7. The crucial roles and research advances of cGAS-STING pathway in liver diseases.
      Title: The crucial roles and research advances of cGAS‑STING pathway in liver diseases.
    8. R-loops and impaired autophagy trigger cGAS-dependent inflammation via micronuclei formation in Senataxin-deficient cells.
      Title: R-loops and impaired autophagy trigger cGAS-dependent inflammation via micronuclei formation in Senataxin-deficient cells.
    9. The effects of cGAS-STING inhibition in liver disease, kidney disease, and cellular senescence.
      Title: The effects of cGAS-STING inhibition in liver disease, kidney disease, and cellular senescence.
    10. cGAS-STING-TBK1 Signaling Promotes Valproic Acid-Responsive Human Cytomegalovirus Immediate-Early Transcription during Infection of Incompletely Differentiated Myeloid Cells.
      Title: cGAS-STING-TBK1 Signaling Promotes Valproic Acid-Responsive Human Cytomegalovirus Immediate-Early Transcription during Infection of Incompletely Differentiated Myeloid Cells.
    Submit: New GeneRIF Correction See all GeneRIFs (236)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    capsid gag HIV-1 CA is a determinant of innate sensing of the viral cDNA by MB21D1 (cGAS) in dendritic cells (DCs). DCs sense capsid-mutated HIV-1 and enhance stimulation of T cells in the absence of productive infection PubMed
    reverse transcriptase gag-pol HIV-1 infection induces the production of endogenous cyclic guanosine monophosphate-adenosine monophosphate (cGAMP) in a manner that depends on cGAMP synthase (cGAS) and the reserve transcription of viral RNA to cDNA by RT PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC131892, MGC142166, MGC142168

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 2',3'-cyclic GMP-AMP synthase activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables 2',3'-cyclic GMP-AMP synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 2',3'-cyclic GMP-AMP synthase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables 2',3'-cyclic GMP-AMP synthase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables double-stranded DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables double-stranded DNA binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables molecular condensate scaffold activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables nucleosome binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phosphatidylinositol-4,5-bisphosphate binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables poly-ADP-D-ribose modification-dependent protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in DNA damage response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in DNA repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in activation of innate immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in activation of innate immune response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in activation of innate immune response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cAMP-mediated signaling IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cGAS/STING signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cGAS/STING signaling pathway TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in cGMP-mediated signaling IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cellular response to exogenous dsRNA IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cytoplasmic pattern recognition receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in defense response to virus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in determination of adult lifespan IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in innate immune response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in innate immune response TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of cGAS/STING signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of double-strand break repair via homologous recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of double-strand break repair via homologous recombination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in paracrine signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in paracrine signaling IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in pattern recognition receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of cellular senescence ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of defense response to virus by host IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of defense response to virus by host IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of defense response to virus by host IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of type I interferon production IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of type I interferon production IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of type I interferon production TAS
    Traceable Author Statement
    more info
    		  
    involved_in regulation of T cell activation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of immunoglobulin production IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytosol TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in site of double-strand break IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in site of double-strand break IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    cyclic GMP-AMP synthase
    Names
    2'3'-cGAMP synthase
    DANGER family member 4
    Mab-21 domain containing 1
    cGAMP synthase
    mab-21 domain-containing protein 1
    protein MB21D1
    NP_001397840.1
    NP_612450.2

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001410911.1 → NP_001397840.1  cyclic GMP-AMP synthase isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC019205, AL603910
      Consensus CDS
      CCDS93943.1
      UniProtKB/TrEMBL
      A0A7P0TBQ3
      Related
      ENSP00000506638.1, ENST00000680833.1

    2. NM_138441.3 → NP_612450.2  cyclic GMP-AMP synthase isoform 1

      See identical proteins and their annotated locations for NP_612450.2

      Status: VALIDATED

      Source sequence(s)
      AC019205, AK097148, BC108714, DA375117
      Consensus CDS
      CCDS4978.1
      UniProtKB/Swiss-Prot
      L0L2J9, Q14CV6, Q32NC9, Q5SWL0, Q5SWL1, Q8N884, Q96E45
      Related
      ENSP00000359339.3, ENST00000370315.4
      Conserved Domains (2) summary
      pfam03281
      Location:214 → 510
      Mab-21; Mab-21 protein
      cl00936
      Location:15 → 117
      RecX; RecX family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      73423711..73452297 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      74600410..74628713 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N884.2 GenPept UniProtKB/Swiss-Prot:Q8N884

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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